R45W (p.Arg45Trp) variant of CASP9 (Caspase-9)
R45W (p.Arg45Trp) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R45W (p.Arg45Trp) variant details
- p.Arg45Trp
- 1000Genomes rs577882729
- ExAC rs577882729
- TOPMed rs577882729
- gnomAD rs577882729
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.13
- CADD 23.10
- PolyPhen-2 0.91
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available